Richard Warth

TL;DR: In this paper, the authors investigated the genetic basis of this autosomal recessive disease, which they call the EAST syndrome (the presence of epilepsy, ataxia, sensorineural deafness, and tubulopathy).

TL;DR: It is shown that the novel β-subunit KCNE3 markedly changes KCNQ1 properties to yield currents that are nearly instantaneous and depend linearly on voltage, which indicates that these proteins may assemble to form the potassium channel that is important for cyclic AMP-stimulated intestinal chloride secretion and that is involved in secretory diarrhoea and cystic fibrosis.

TL;DR: Dominant somatic alterations in two members of the ATPase gene family result in autonomous aldosterone secretion in primary adrenal adenoma cells.

TL;DR: The present data indicate that MR-deficient neonates die because they are not able to compensate renal Na+ loss and MR knockout mice will be a suitable tool for the search of these genes.

TL;DR: The protein product of SLC6A19, the Hartnup transporter, is expressed primarily in intestine and renal proximal tubule and functions as a neutral amino acid transporter.